Abstracts

RATIONALE: Epilepsy due to hypothalamic hamartomas is difficult to treat by medical or surgical approaches. We examined the clinical presentation, seizure semiology and electrophysiological findings in patients with hypothalamic hamartomas.
METHODS: We identified all patients with hypothalamic hamartomas from our database seen between 1994-2000.
RESULTS: Eleven patients (mean age at presentation 12.3 years, 7 males) with hypothalamic hamartomas were identified. Three other patients whose MRI films were unavailable are not included. Patients presented with gelastic (10) and bilateral asymmetric tonic (1) seizures. Other seizure types in the patient[ssquote]s history included dialeptic/absence (4), atonic (3), automotor (2) and bilateral asymmetric tonic seizures (1). Evolution to generalized tonic clonic seizures was seen in 3 patients. Seven patients had a preceding aura (3 cephalic, 2 abdominal, 1 psychic, 1 pleasant feeling). Other presenting features included developmental delay (10), behavioral difficulties (6) and precocious puberty (1). Interictal spikes were generalized (2), focal (5) (3 multiregional, 1 frontal and 1 temporal) or both (3). In one patient no spikes were found. Ictal EEG was generalized (4), lateralized (2), regional (1), and non-localizable (1). No EEG change was seen during clinical seizures in two patients. In one patient no video-EEG monitoring was performed. The hamartomas were exophytic in 7 and sessile in 4. One patient had dual pathology (temporal malformation of cortical development). PET in 2 patients showed frontal and temporal hypometabolism. Ictal SPECT in two patients demonstrated hyperperfusion over the fronto-temporal and parieto-frontal regions. Four patients received VNS. One responded with over 80% reduction of seizure frequency and 3 patients did not show improvement. One patient was monitored with depth electrodes into the hypothalamic hamartoma, and in the right temporal lobe. No independent spikes arising from hypothalamus were recorded and, no localized EEG seizure pattern was seen.
CONCLUSIONS: Patients with hypothalamic hamartomas frequently present with pharmacologically intractable gelastic, dialeptic/absence, tonic or atonic seizures. Associated features include precocious puberty, developmental delay and behavioral difficulties. Interictal and ictal EEG activity related to hypothalamic hamartomas can be generalized, regional, multiregional or normal. Localized abnormalities predominated over the temporal and frontal regions.
[Supported by: This work was supported by Innovative Medizinische Forschung, WWU Münster (FoeKz. LO 610101) and NRW-Nachwuchsgruppe Kn2000, Federal Ministry of Education and Research (Foe.1KS9604/0), Interdisciplinary Center of Clinical Research Münster (IZKF Project NWG2).]